AFF2 Is Associated With X-Linked Partial (Focal) Epilepsy With Antecedent Febrile Seizures
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DOI: 10.3389/fnmol.2022.795840
Abstract: Objective AFF2 mutations were associated with X-linked intellectual developmental disorder-109 and in males with autism spectrum disorder (ASD). The relationship between AFF2 and epilepsy has not been defined. Method Trios-based whole-exome sequencing was performed in… read more here.
Keywords: antecedent febrile; febrile seizures; epilepsy antecedent; aff2 ... See more keywords
Recessive PKD1 Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation
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DOI: 10.3389/fnmol.2022.861159
Abstract: Objective The PKD1 encodes polycystin-1, a large transmembrane protein that plays important roles in cell proliferation, apoptosis, and cation transport. Previous studies have identified PKD1 mutations in autosomal dominant polycystic kidney disease (ADPKD). However, the… read more here.
Keywords: antecedent febrile; pkd1; seizures epilepsy; epilepsy antecedent ... See more keywords
ADGRV1 Variants in Febrile Seizures/Epilepsy With Antecedent Febrile Seizures and Their Associations With Audio-Visual Abnormalities
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DOI: 10.3389/fnmol.2022.864074
Abstract: Objective ADGRV1 gene encodes adhesion G protein-coupled receptor-V1 that is involved in synaptic function. ADGRV1 mutations are associated with audio-visual disorders. Although previous experimental studies suggested that ADGRV1 variants were associated with epilepsy, clinical evidence… read more here.
Keywords: audio visual; visual disorders; epilepsy antecedent; missense variants ... See more keywords